HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31326607C>G , CM000680.2:g.31326607C>G | GRCh38 |
NC_000018.9:g.28906570C>G , CM000680.1:g.28906570C>G | GRCh37 |
NC_000018.8:g.27160568C>G | NCBI36 |
NG_011803.2:g.13519C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000257192.5:c.75C>G MANE Select | ENSP00000257192.4:p.Phe25Leu | |
ENST00000257192.4:c.75C>G | ENSP00000257192.4:p.Phe25Leu | |
NM_001942.3:c.75C>G | NP_001933.2:p.Phe25Leu | |
NM_001942.4:c.75C>G MANE Select | NP_001933.2:p.Phe25Leu |